Success Story
2023.09.27
SMA Carrier Couple Give Birth to Healthy Twins
In recent years, there has been a call for expectant mothers to undergo screening for Spinal Muscular Atrophy (SMA) during prenatal check-ups. Why is this disease so important to screen for during prenatal testing? It's because the carrier rate for SMA in Taiwan is estimated to be 1/40 to 1/60 (*Source: Rare Disease Foundation), and from 2000 to June 2023, there were a total of 533 SMA patients in Taiwan, with 97 of them having passed away (*Source: Ministry of Health and Welfare). SMA is a single-gene autosomal recessive genetic disease, and many carriers may not have a family history of the disease, leading to the underestimation of its severity.
The mortality rate for SMA is high, and the annual medical expenses are substantial. However, genetic diseases like this one can now be detected and prepared for through various types of screenings, including preconception genetic screening, embryo screening, and prenatal examinations.
Prenatal screening is the final health check station for delivering a healthy baby. Even if both spouses are carriers of SMA without symptoms, there is still a 1/4 chance of having a baby with severe SMA. Therefore, it is recommended to undergo screening at the time of prenatal check-ups, even if it is self-funded.
Dr. Lin explained, "Autosomal recessive genetic diseases, in simple terms, are like hidden versions of disease genes. If both spouses each have only one recessive carrier gene, although they do not have symptoms themselves, when both carriers pass on their carrier genes to the next generation, and the next generation happens to inherit a pair of these genes, the disease can manifest. Especially in the case of SMA, which has the second-highest carrier rate for genetic diseases, it is strongly recommended to undergo screening during prenatal check-ups. If you already know that both spouses are carriers, you can use PGT-M embryo screening to identify embryos that are not affected by the disease, and further confirm during pregnancy through amniocentesis."
The protagonist of this story is a caring and courageous mom, Beibei. She got married at the age of 31 and hails from Taipei. In 2016, she naturally became pregnant but underwent cautious SMA screening during prenatal check-ups, which revealed that her baby had Spinal Muscular Atrophy (SMA). Unfortunately, she had to endure the pain of inducing labor at 22 weeks. However, when she later tried to conceive naturally, it was unsuccessful. This led her to seek the help of Dr. Lin Bingyao in the infertility department.
Dr. Lin, also a mother herself, was seen through Beibei's eyes as a compassionate and empathetic doctor. "She understands the needs and hardships of women in the process of seeking to have a child. She takes into consideration your physical and mental well-being, distance, costs, and various other factors. She knew I lived in Taipei, and throughout the treatment, she made every effort to schedule it in a way that minimized my travels to Taichung. She would recommend treatment options that were suitable for me, rather than pushing for the most expensive and supposedly most effective ones. She also helped me manage the financial aspects, especially since our situation required PGT-A and PGT-M embryo screening, which incurred considerable costs."
At that time, she initially suggested implanting just one embryo. While we were waiting outside the consultation room for the prescription, the nurse called us back into the room. Dr. Bingyao Lin then said it might be better to implant two embryos, to which my spouse and I agreed. As we were about to leave, Dr. Lin suddenly said, "Whenever I feel soft-hearted, it turns into twins."
At that moment, I thought to myself that if just one of them could successfully implant, I would consider it a blessing. I couldn't even imagine both embryos successfully implanting, considering that in the three previous IVF attempts, none had resulted in implantation. However, Dr. Lin turned out to be our "Goddess of Fertility," and we are immensely grateful to her for blessing us with two daughters. We are truly thankful to her.
In conclusion, through this story, we want to encourage every future parent to plan for the health of their baby in advance. We all hope to provide a bright future for our children. For couples with family planning in mind, we recommend discussing genetic testing-related issues with doctors.
The mortality rate for SMA is high, and the annual medical expenses are substantial. However, genetic diseases like this one can now be detected and prepared for through various types of screenings, including preconception genetic screening, embryo screening, and prenatal examinations.
Prenatal screening is the final health check station for delivering a healthy baby. Even if both spouses are carriers of SMA without symptoms, there is still a 1/4 chance of having a baby with severe SMA. Therefore, it is recommended to undergo screening at the time of prenatal check-ups, even if it is self-funded.
Dr. Lin explained, "Autosomal recessive genetic diseases, in simple terms, are like hidden versions of disease genes. If both spouses each have only one recessive carrier gene, although they do not have symptoms themselves, when both carriers pass on their carrier genes to the next generation, and the next generation happens to inherit a pair of these genes, the disease can manifest. Especially in the case of SMA, which has the second-highest carrier rate for genetic diseases, it is strongly recommended to undergo screening during prenatal check-ups. If you already know that both spouses are carriers, you can use PGT-M embryo screening to identify embryos that are not affected by the disease, and further confirm during pregnancy through amniocentesis."
SMA Carrier Couple Gives Birth to Healthy Twin Girls through PGT-M Embryo Screening
The protagonist of this story is a caring and courageous mom, Beibei. She got married at the age of 31 and hails from Taipei. In 2016, she naturally became pregnant but underwent cautious SMA screening during prenatal check-ups, which revealed that her baby had Spinal Muscular Atrophy (SMA). Unfortunately, she had to endure the pain of inducing labor at 22 weeks. However, when she later tried to conceive naturally, it was unsuccessful. This led her to seek the help of Dr. Lin Bingyao in the infertility department.
Dr. Lin, also a mother herself, was seen through Beibei's eyes as a compassionate and empathetic doctor. "She understands the needs and hardships of women in the process of seeking to have a child. She takes into consideration your physical and mental well-being, distance, costs, and various other factors. She knew I lived in Taipei, and throughout the treatment, she made every effort to schedule it in a way that minimized my travels to Taichung. She would recommend treatment options that were suitable for me, rather than pushing for the most expensive and supposedly most effective ones. She also helped me manage the financial aspects, especially since our situation required PGT-A and PGT-M embryo screening, which incurred considerable costs."
At that time, she initially suggested implanting just one embryo. While we were waiting outside the consultation room for the prescription, the nurse called us back into the room. Dr. Bingyao Lin then said it might be better to implant two embryos, to which my spouse and I agreed. As we were about to leave, Dr. Lin suddenly said, "Whenever I feel soft-hearted, it turns into twins."
At that moment, I thought to myself that if just one of them could successfully implant, I would consider it a blessing. I couldn't even imagine both embryos successfully implanting, considering that in the three previous IVF attempts, none had resulted in implantation. However, Dr. Lin turned out to be our "Goddess of Fertility," and we are immensely grateful to her for blessing us with two daughters. We are truly thankful to her.
In conclusion, through this story, we want to encourage every future parent to plan for the health of their baby in advance. We all hope to provide a bright future for our children. For couples with family planning in mind, we recommend discussing genetic testing-related issues with doctors.
